No abstract

Children in a vegetative state (VS) and a minimally conscious state (MCS) experience severe limitations as a consequence of nervous system deficits and require consistent environmental support. However, disability in VS and MCS children has never been described following a model that accounts for the presence of the symptoms, limitations and the support required. Therefore, the aim of this paper is to describe the functioning and disability of children in VS and MCS using the International Classification of Functioning, Disability and Health - version for Children and Youth (ICF-CY). VS and MCS children were enrolled in postacute settings and at home. ICF-CY questionnaires were filled in using information available from clinical documentation, direct observation and from children's parents. ICF-CY categories were considered as relevant if used in at least one-third of the children. In total, 36 children and adolescents (22 in VS, 25 males) were enrolled. The majority developed VS and MCS following a nontraumatic event; the mean age was 114.8 months and the mean duration of condition was 50.1 months. A total of 94 ICF-CY categories were reported as relevant: 26 were from body functions, mostly from mental functions and mobility chapters; nine from body structures, 32 from activities and participation, mostly from learning, mobility and self-care chapters; and 27 from environmental factors. The use of ICF-CY enables to obtain a specific profile of functioning for each child that can be coupled with known issues, such as loss of brain functions and provision of life-sustaining interventions.

Starting from the case of a 12-year-old boy with dyskinetic (athetoid-dystonic subtype) cerebral palsy, the authors apply the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) of the World Health Organization (WHO) as a comprehensive documentation tool to guide the pathway of care and illustrate a multidisciplinary and interdisciplinary neurorehabilitation team approach. The ICF-CY provides a common and universal language for describing and measuring health and disability in the first 2 decades of life. Despite the fact that this is a single case design, the authors consider it useful for the identification of an ICF-CY core set for the description of children with cerebral palsy. The results of this single case study are preliminary and need to be tested in a large trial of children with cerebral palsy.

No abstract

Septo-optic dysplasia (SOD), also called De Morsier's syndrome, is a highly heterogeneous condition comprising a spectrum of central nervous system malformations that involves in various degrees the optic nerves, the hypothalamic-pituitary axis, and other midline structures such as the septum pellucidum and the corpus callosum. In a discrete number of cases, schizencephaly, agenesis of the corpus callosum or other cortical malformations are associated (SOD-plus). The authors present a 6-year-old boy with dyskinetic cerebral palsy (athetoid-dystonic subtype) associated with SOD-plus. Cranial magnetic resonance imaging (cMRI) revealed the total absence of septum pellucidum, optic nerve hypoplasia, hypoplasia of the corpus callosum and right occipital cortical dysplasia. The patient was diagnosed with septo-optic dysplasia-plus syndrome based on the cMRI findings. To the best of our knowledge, this is the first reported case in which defects of midline brain structures, like in SOD-plus, are associated with a significant hyperkinetic movement disorder such as dyskinesia.